Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.79921662C>A , CM000668.2:g.79921662C>A | GRCh38 |
| NC_000006.11:g.80631379C>A , CM000668.1:g.80631379C>A | GRCh37 |
| NC_000006.10:g.80688098C>A | NCBI36 |
| NG_009108.1:g.30937G>T | |
| NG_009108.2:g.30937G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_022726.4:c.504G>T MANE Select | NP_073563.1:p.Leu168Phe |
| ENST00000369816.5:c.504G>T MANE Select | ENSP00000358831.4:p.Leu168Phe |
| NM_022726.3:c.504G>T | NP_073563.1:p.Leu168Phe |
| ENST00000369816.4:c.504G>T | ENSP00000358831.4:p.Leu168Phe |